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Cranial placode differentiation defect in individuals born without a nose

GSE296453 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2026/03/01 Platform GPL24676
Summary
Bosma arhinia microphthalmia syndrome (BAMS) is a rare congenital disorder characterized by the absence of a nose, along with eye and reproductive anomalies. BAMS is caused by heterozygous missense variants in SMCHD1, an epigenetic regulator. Despite uncovering its genetic basis, the cellular basis of the disease has remained elusive. The embryonic development of the nose involves direct contributions from both the neural crest and cranial placodes. Here we differentiated patient-derived induced pluripotent stem cells towards the cranial placode lineage and found that they exhibited significant differentiation defects. Combined transcriptome and DNA methylome analyses further revealed dysregulation in cell adhesion but without overt apoptosis. Together our research suggests that BAMS is caused by impaired differentiation to cranial placode cells and changes in cell adhesion, offering new insights into the cellular pathology of this enigmatic syndrome.
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Direct links to NCBI, no account and no request form: the whole study as GSE296453_RAW.tar, processed values as the series matrix, the supplementary file directory, and per-sample supplementary files for any of the 6 samples. Raw sequencing reads are also available from ENA.

Also filed as BioProject PRJNA1259404 and SRA study SRP583325. Searching any of these in the dataset finder brings you back here.

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